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rarerelated tag: Genetic Counseling

Familial Adenomatous Polyposis (FAP) is a rare, highly penetrant, genetic cancer predisposition syndrome typically requiring prophylactic removal of the colon. This study is an early look at the specific impact of FAP in the dynamic period of life between the ages of 18 to 25 termed “emerging adulthood.” Participants recruited through the Hereditary Colon Cancer Foundation were asked to complete an online survey designed to collect both quantitative and qualitative data that focused on areas of life typically important to emerging adults: education, career planning, relationships, and family planning. Additionally, overall adjustment was assessed via the previously validated Psychological Adaptation Scale (PAS) and participants were asked about the time of diagnosis and experiences with genetic counseling. Participants (n=33) expressed varying degrees of impact across all domains, although the PAS revealed that on average participants were relatively well adjusted to their diagnosis. Specific challenges highlighted by participants included a lack of informed providers, difficulties due to missed school or work, struggles in relationships with friends and romantic partners, and a desire to avoid passing this condition on to children. These results suggest that a longitudinal care model of periodic follow-up with a multidisciplinary care team of genetics, gastroenterology, surgery, and mental health professionals may be beneficial for emerging adults with FAP.